Saphetor, Genomenon Share Genomic Variant Data on Their Platforms

February 6, 2018
Saphetor, Genomenon Share Genomic Variant Data on Their Platforms
Saphetor and Genomenon have agreed to share genomic variant data between their software platforms, VarSome.com and Mastermind Genomic Search Engine, respectively. [Darryl Leja, National Human Genome Research Institute, NIH]

Saphetor and Genomenon said today they have agreed to share genomic variant data between their software platforms, through a partnership whose value was not disclosed.

The partnership enables sharing of data between Saphetor’s VarSome.com, a knowledge base and aggregator for human genomic variants; and Genomenon’s Mastermind Genomic Search Engine, which the company says is the world’s first search engine to connect genomic data from patients with evidence retrieved from scientific literature.

The data links between Mastermind and VarSome were completed early last month, and are already available on both platforms, the companies said.

All VarSome users will get free access to the Mastermind Genomic Search Engine. VarSome integrates more than 30 leading research and clinical databases with more than 33 billion items of variant and gene annotation, through a database used by 47,000 users worldwide. VarSome users can explore the literature associated with each variant and gene captured in the database through a link to Mastermind.

“Having an index into the complete corpus of scientific literature available to our VarSome users significantly enhances the value for VarSome users” Saphetor CEO Andreas Massouras said in a statement. “We’re excited about the value we’re able to bring to both sets of users.”

Mastermind search results will include a link to VarSome so users can access gene and variant information. Through that link, Genomenon said, Mastermind can provide data about a specific gene or variant search, including transcript information, and its entries in 30 databases—including ClinVar, gnomAD, Uniprot, ICGC, CIViC, and dbNSFP.

“The VarSome connection in Mastermind provides a richer view and understanding of variant data that previously wasn’t available in our search engine” said Mike Klein, CEO of Genomenon. “Linking the two products provide this mutual benefit to our users, and it was an easy decision on our part to collaborate on this project.”